MLH3 (mutL homolog 3)

2003-02-01  

Identity

HGNC
LOCATION
14q24.3
LOCUSID
ALIAS
HNPCC7
FUSION GENES

Other Information

Locus ID:

NCBI: 27030
MIM: 604395
HGNC: 7128
Ensembl: ENSG00000119684

Variants:

dbSNP: 27030
ClinVar: 27030
TCGA: ENSG00000119684
COSMIC: MLH3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000119684ENST00000355774Q9UHC1
ENSG00000119684ENST00000380968Q9UHC1
ENSG00000119684ENST00000553263G3V3E0
ENSG00000119684ENST00000553713H0YJB4
ENSG00000119684ENST00000554697H0YJA3
ENSG00000119684ENST00000555144H0YJ15
ENSG00000119684ENST00000556257G3V419
ENSG00000119684ENST00000556453H0YJU3
ENSG00000119684ENST00000556740Q9UHC1
ENSG00000119684ENST00000557648G3V384

Expression (GTEx)

0
5
10
15
20

Pathways

PathwaySourceExternal ID
Mismatch repairKEGGko03430
Mismatch repairKEGGhsa03430
Cell CycleREACTOMER-HSA-1640170
MeiosisREACTOMER-HSA-1500620
Meiotic recombinationREACTOMER-HSA-912446

References

Pubmed IDYearTitleCitations
335173452021A loss-of-function variant in DNA mismatch repair gene MLH3 underlies severe oligozoospermia.8
349337352021Exonic sequencing and MLH3 gene expression analysis of breast cancer patients.1
335173452021A loss-of-function variant in DNA mismatch repair gene MLH3 underlies severe oligozoospermia.8
349337352021Exonic sequencing and MLH3 gene expression analysis of breast cancer patients.1
320151242020Human MutLγ, the MLH1-MLH3 heterodimer, is an endonuclease that promotes DNA expansion.40
328149042020Regulation of the MLH1-MLH3 endonuclease in meiosis.68
334539912020Genetic evidence for the involvement of mismatch repair proteins, PMS2 and MLH3, in a late step of homologous recombination.16
320151242020Human MutLγ, the MLH1-MLH3 heterodimer, is an endonuclease that promotes DNA expansion.40
328149042020Regulation of the MLH1-MLH3 endonuclease in meiosis.68
334539912020Genetic evidence for the involvement of mismatch repair proteins, PMS2 and MLH3, in a late step of homologous recombination.16
305737982019Biallelic germline nonsense variant of MLH3 underlies polyposis predisposition.25
313426442019The association of four SNPs in DNA mismatch repair genes with idiopathic male infertility in northwest China.3
305737982019Biallelic germline nonsense variant of MLH3 underlies polyposis predisposition.25
313426442019The association of four SNPs in DNA mismatch repair genes with idiopathic male infertility in northwest China.3
295292362018GAA•TTC repeat expansion in human cells is mediated by mismatch repair complex MutLγ and depends upon the endonuclease domain in MLH3 isoform one.24

Citation

Dessen P

MLH3 (mutL homolog 3)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/381/mlh3-(mutl-homolog-3)